Varaico: Literature-Extracted Genetic Variants

Gene:XRCC2
Variant:p.L96I

XRCC2

537 papers

RefSeq Summary

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the r...

Pfam Domains

Rad51aa 38–215UCSCRad51

Gene Aliases

HGNC Name

X-ray repair cross complementing 2

HGNC Alias Symbol

FANCU

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005431.2
p.L96I
c.286C>A
Surrounding Variants
2 papers
NM_005431.2
p.L96H
c.287T>A
1 paper
NM_005431.2
p.E97Q
c.289G>C
11 papers
NM_005431.2
p.I95V
c.283A>G
3 papers
NM_005431.2
p.I95L
c.283A>C
1 paper
NM_005431.2
p.E97G
c.290A>G
1 paper
NM_005431.2
p.T94fs
c.280_281fs
1 paper
NM_005431.2
p.L90_T94delFs
c.268_281del14
1 paper
NM_005431.2
p.T94insFs
c.280dupA
1 paper
NM_005431.2
p.E97delFs
c.289_290delTC
3 papers
NM_005431.2
p.H98L
c.293A>T
1 paper
NM_005431.2
p.V93A
c.278T>C
1 paper
NM_005431.2
p.L100L
c.298C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."